rs137854572
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.5 | Familial Adenomatous Polyposis |
Make rs137854572(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 112828001 |
Gene | APC |
is a | snp |
is | mentioned by |
dbSNP | rs137854572 |
dbSNP (classic) | rs137854572 |
ClinGen | rs137854572 |
ebi | rs137854572 |
HLI | rs137854572 |
Exac | rs137854572 |
Gnomad | rs137854572 |
Varsome | rs137854572 |
LitVar | rs137854572 |
Map | rs137854572 |
PheGenI | rs137854572 |
Biobank | rs137854572 |
1000 genomes | rs137854572 |
hgdp | rs137854572 |
ensembl | rs137854572 |
geneview | rs137854572 |
scholar | rs137854572 |
rs137854572 | |
pharmgkb | rs137854572 |
gwascentral | rs137854572 |
openSNP | rs137854572 |
23andMe | rs137854572 |
SNPshot | rs137854572 |
SNPdbe | rs137854572 |
MSV3d | rs137854572 |
GWAS Ctlg | rs137854572 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs137854572(T;T) |
Alt | rs137854572(T;T) |
Reference | Rs137854572(C;C) |
Significance | Pathogenic |
Disease | Familial adenomatous polyposis 1 Brain tumor-polyposis syndrome 2 Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | APC |
CLNDBN | Familial adenomatous polyposis 1 Brain tumor-polyposis syndrome 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.112163698C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000843.2, RCV000000844.2, RCV000490845.1, |